Detalhe da pesquisa
1.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell
; 180(3): 568-584.e23, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981491
2.
Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting.
Am J Hum Genet
; 111(4): 654-667, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471507
3.
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
Am J Hum Genet
; 109(8): 1500-1519, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931052
4.
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Proc Natl Acad Sci U S A
; 119(22): e2118124119, 2022 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35617426
5.
Genetic control of the human brain proteome.
Am J Hum Genet
; 108(3): 400-410, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571421
6.
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.
Am J Hum Genet
; 108(3): 431-445, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600772
7.
POIROT: a powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes.
Bioinformatics
; 39(4)2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067493
8.
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
Hum Genet
; 142(10): 1531-1541, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37676273
9.
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Am J Hum Genet
; 107(1): 124-136, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32574564
10.
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Genet Med
; 25(10): 100918, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330696
11.
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
Mol Genet Metab
; 138(4): 107542, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36848716
12.
LDL cholesterol is associated with higher AD neuropathology burden independent of APOE.
J Neurol Neurosurg Psychiatry
; 2022 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35772923
13.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
14.
Blood-Derived DNA Methylation Signatures of Crohn's Disease and Severity of Intestinal Inflammation.
Gastroenterology
; 156(8): 2254-2265.e3, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30779925
15.
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Hepatology
; 70(3): 899-910, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664273
16.
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Proc Natl Acad Sci U S A
; 114(10): E1923-E1932, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28223510
17.
Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.
Genes Immun
; 20(2): 131-142, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29593342
18.
A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants.
Am J Hum Genet
; 98(3): 525-540, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942286
19.
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.
Gastroenterology
; 154(8): 2097-2110, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454792
20.
Not All Autism Genes Are Created Equal: A Response to Myers et al.
Am J Hum Genet
; 107(5): 1000-1003, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157004